title: PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets.
abstract: OBJECTIVE
  X-linked hypophosphatemic (XLH) rickets is caused by inactivating mutations in the PHEX gene, which encodes a metalloprotease that cleaves small peptide hormone. So far there are only a few reports on XLH patients from China. In the present study, we report on six XLH patients from one family. A PHEX missense mutation was found in exon 22, and a literature review on the mutations of Chinese patients was undertaken.
  
  
  METHODS
  The family included six XLH patients with five females and one male (the proband). All the patients showed a low serum phosphorus, increased blood alkaline phosphatase and normal calcium levels. Mutation analysis revealed a PHEX mutation in exon 22 (c.2237G>A). In total, 15 PHEX mutations have been reported in Chinese populations at this time.
  
  
  CONCLUSIONS
  These data extend the spectrum of mutations in the PHEX gene in Chinese populations.
authors.forename: Lili
authors.initials: L
authors.lastname: Yang
authors.forename: Jianbin
authors.initials: J
authors.lastname: Yang
authors.forename: Xinwen
authors.initials: X
authors.lastname: Huang
mesh_terms: D002681:China; D005091:Exons; D053098:Familial Hypophosphatemic Rickets / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D053402:PHEX Phosphate Regulating Neutral Endopeptidase / Q000235:genetics*; D010375:Pedigree
chemical_list: D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human